Clinical Trial: Pancreatic Cancer Genetics

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Molecular Genetics and Epidemiology of Pancreatic Cancer in Ashkenazi Jewish Patients

Brief Summary: The aim of this study is to determine the frequency of the three most common BRCA1 and BRCA2 genetic mutations that are commonly found in Ashkenazi Jewish patients with pancreatic cancer. Testing for BRCA1 and BRCA2 mutations in relatives of hereditary pancreatic cancer patients may have a significant impact; allowing for early screening, treatment, and resection of pre-malignant tissue or malignant lesions.

Detailed Summary:

Pancreatic cancer is the fourth leading cause of death from malignancy in the United States. Up to 15% of pancreatic cancers have a hereditary component. Several gene mutations and cancer syndromes have been identified that are frequently found in greater frequency in individuals with pancreatic cancer, including the breast ovary cancer syndrome (BRCA1/BRCA2 mutations). No studies adequately describe the epidemiology of inherited pancreatic cancer and genetic risk factors that may modify the penetrance of BRCA1/BRCA2 mutations. The primary aim of this study is to determine the frequency of BRCA1 (185delAG,5382insC) and BRCA2 (6174delT) mutations in Ashkenazi Jewish pancreatic cancer patients. Secondary endpoints will include determining the individual frequency of these mutations and other disease-modifying mutations, death from any cause, disease-free survival, and stage of disease at time of presentation, differences in tissue pathology, risk factors, treatment decisions and development of metachronous malignancies.

The investigator plan to study about 100 patients, which will enable the true frequency of the mutation to be estimated. Although the impact of BRCA1/BRCA2 mutations will be initially studied in the Ashkenazi population, these data will be widely applicable to other pancreatic cancer patients carrying BRCA1/BRCA2 mutations. Testing for BRCA1 and BRCA2 mutations in relatives of hereditary pancreatic cancer patients may allow early screening, treatment, and resection of pre-malignant tissue or malignant lesions.


Sponsor: Columbia University

Current Primary Outcome: Frequency of Three BRCA1/2 Mutations in Ashkenazi Jewish Patients [ Time Frame: 1 year ]

The primary aim of this study is to determine the combined frequency of BRCA1 (185delAG, 5382insC) and BRCA2(6174delT) mutations in Ashkenazi Jewish pancreatic cancer patients.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Individual Frequency of Three Mutations [ Time Frame: 1 year ]
    Individual frequency of these mutations three mutations BRCA1 (185delAG, 5382insC) and BRCA2 (6174delT) mutations.
  • Frequency of disease modifying mutations [ Time Frame: 1 year ]
    Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.


Original Secondary Outcome:

  • Individual Frequency of Three Mutations [ Time Frame: 1 year ]
    Individual frequency of these mutations three mutations BRCA1 (185delAG, 5382insC) and BRCA2 (6174delT) mutations.
  • Frequency of disease modifying mutations [ Time Frame: 1 year ]
    Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.
  • Other Variables in Patients with Positive Mutations [ Time Frame: 1 year ]
    Study death from any cause, disease-free survival, stage of disease at time of presentation (Pan-In Stage 1-3 and tumor stages), differences in tissue pathology, risk factors, treatment decisions, and development of another malignancy in patients with positive mutations.


Information By: Columbia University

Dates:
Date Received: April 12, 2010
Date Started: January 2008
Date Completion: August 2016
Last Updated: July 2, 2015
Last Verified: July 2015